Reversible Infantile Respiratory Chain Deficiency is a Unique, Genetically Heterogenous Mitochondrial Disease

由 Uusimaa, J, Jungbluth, H, Fratter, C, Crisponi, G, Feng, L, Zeviani, M, Hughes, I, Treacy, EP, Birks, J, Brown, GK, Sewry, CA, McDermott, M, Muntoni, F, Poulton, J
發表在 J Med Genet (2011)

Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

由 Papandreou, A., Rahman, S., Fratter, C., Ng, J., Meyer, E., Carr, L. J., Champion, M., Clarke, A., Gissen, P., Hemingway, C., Hussain, N., Jayawant, S., King, M. D., Lynch, B. J., Mewasingh, L., Patel, J., Prabhakar, P., Neergheen, V., Pope, S., Heales, S. J. R., Poulton, J., Kurian, Manju A.
發表在 J Inherit Metab Dis (2018)

Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease

由 Papandreou, A., Rahman, S., Fratter, C., Ng, J., Meyer, E., Carr, L. J., Champion, M., Clarke, A., Gissen, P., Hemingway, C., Hussain, N., Jayawant, S., King, M. D., Lynch, B. J., Mewasingh, L., Patel, J., Prabhakar, P., Neergheen, V., Pope, S., Heales, S. J. R., Poulton, J., Kurian, Manju A.
發表在 J Inherit Metab Dis (2018)

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

由 Fratter, C., Raman, P., Alston, C.L., Blakely, E.L., Craig, K., Smith, C., Evans, J., Seller, A., Czermin, B., Hanna, M.G., Poulton, J., Brierley, C., Staunton, T.G., Turnpenny, P.D., Schaefer, A.M., Chinnery, P.F., Horvath, R., Turnbull, D.M., Gorman, G.S., Taylor, R.W.
出版 2011

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

由 Fratter, C., Gorman, G.S., Stewart, J.D., Buddles, M., Smith, C., Evans, J., Seller, A., Poulton, J., Roberts, M., Hanna, M.G., Rahman, S., Omer, S.E., Klopstock, T., Schoser, B., Kornblum, C., Czermin, B., Lecky, B., Blakely, E.L., Craig, K., Chinnery, P.F., Turnbull, D.M., Horvath, R., Taylor, R.W.
出版 2010